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Results for "LRRK1"

Variant Events: 25

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
LRRK1     1-0400-003chr15:
101629675-101629678
GTTTGTintergenicDe novo--Yuen2017 G
LRRK1     1-0007-003chr15:
101700431-101700431
CAintergenicDe novo--Yuen2017 G
LRRK1     10605chr15:
101528829-101528829
CTintronicDe novo17.66-Satterstrom2020 E
LRRK1     AU054304chr15:
101638608-101638608
GAintergenicDe novo--Yuen2017 G
LRRK1     AU072505chr15:
101642390-101642390
GAintergenicDe novo--Yuen2017 G
LRRK1     AU4359301chr15:
101621239-101621239
CTintergenicDe novo--Yuen2017 G
LRRK1     7-0140-003chr15:
101576012-101576012
CTintronicDe novo--Yuen2017 G
LRRK1     2-1364-003chr15:
101573805-101573805
TCintronicDe novo--Yuen2017 G
LRRK1     AU072504chr15:
101655395-101655395
CGintergenicDe novo--Yuen2017 G
LRRK1     Lim2017:5910chr15:
101567898-101567898
GAexonicDe novononsynonymous SNVNM_024652c.G2582Ap.R861H34.02.043E-5Lim2017 E
LRRK1     1-0566-003chr15:
101549010-101549010
CTintronicDe novo--Yuen2017 G
LRRK1     AU3637301chr15:
101587926-101587926
GAintronicDe novo--Yuen2017 G
LRRK1     Lim2017:10605chr15:
101528829-101528829
CTintronicDe novo17.66-Lim2017 E
LRRK1     AU2975302chr15:
101641690-101641690
CGintergenicDe novo--Yuen2017 G
LRRK1     2-1261-004chr15:
101601656-101601656
CTintronicDe novo--Yuen2017 G
LRRK1     EGAN00001101125chr15:
101567825-101567825
CAintronicDe novo--Satterstrom2020 E
LRRK1     AU2410301chr15:
101651719-101651719
CTintergenicDe novo--Yuen2017 G
LRRK1     AU074503chr15:
101639537-101639537
GAintergenicDe novo--Yuen2017 G
LRRK1     2-1402-003chr15:
101686682-101686682
GAintergenicDe novo--Yuen2017 G
LRRK1     12036.p1chr15:
101567898-101567898
GAexonicDe novononsynonymous SNVNM_024652c.G2582Ap.R861H34.02.043E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
LRRK1     13822.p1chr15:
101569435-101569435
CTexonicDe novosynonymous SNVNM_024652c.C2961Tp.D987D-1.724E-5Iossifov2014 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
LRRK1     AU043804chr15:
101675004-101675004
TGintergenicDe novo--Yuen2017 G
LRRK1     3-0392-000chr15:
101494318-101494318
ACintronicDe novo--Yuen2016 G
LRRK1     1-0591-003chr15:
101470114-101470114
CTintronicDe novo--Yuen2017 G
LRRK1     2-1235-003chr15:
101656158-101656158
CTintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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